A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4090416



Internal ID20329888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65913184..66098202hg38UCSC Ensembl
chr3:65898859..66083877hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg38185019
hg19185019
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1651n166
Supporting Variantsnssv15972580
Samples
Known GenesMAGI1, MAGI1-AS1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4090416
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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